Publications by authors named "Marie-Pierre Cordier"

42Publications

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

Eur J Paediatr Neurol 2018 Jan 5;22(1):82-92. Epub 2017 Sep 5.

Université de Lyon, F-69008 Lyon, France; Radiologie pédiatrique et médecine fœtale, Hôpital Femme Mère Enfant, F-69677 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2017.08.003DOI Listing
January 2018

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

Pediatr Res 2017 May 13;81(5):712-721. Epub 2017 Jan 13.

Department of pathology, Hôpital Femme-Mère-Enfant, CHU de Lyon, France.

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http://dx.doi.org/10.1038/pr.2017.8DOI Listing
May 2017

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

J Inherit Metab Dis 2017 01 16;40(1):103-112. Epub 2016 Nov 16.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie, Groupement Hospitalier Est, Lyon Bron, France.

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http://dx.doi.org/10.1007/s10545-016-9992-3DOI Listing
January 2017

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

J Inherit Metab Dis 2016 09 22;39(5):597-610. Epub 2016 Apr 22.

Department of Department of Biochemistry, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.

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http://dx.doi.org/10.1007/s10545-016-9937-xDOI Listing
September 2016

[Innovations in diagnosis and treatment about a case of primary failure eruption linked to a PTHR1 gene mutation].

Orthod Fr 2015 Sep 14;86(3):221-31. Epub 2015 Sep 14.

Département de Sciences Biologiques, Faculté d'Odontologie de Lyon, 11 rue Guillaume Paradin, 69008 Lyon, France - Institut de Génomique Fonctionnelle de Lyon (UMR5242), 46 allée d'Italie, 69364 Lyon cedex 07, France.

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http://dx.doi.org/10.1051/orthodfr/2015025DOI Listing
September 2015

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death.

Lancet 2015 May;385(9982):2120

Laboratoire de Biochimie et Génétique Moléculaire, CHU Grenoble, Grenoble, France; Université Grenoble Alpes, Grenoble, France. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(15)60773-5DOI Listing
May 2015

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.

Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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http://link.springer.com/content/pdf/10.1007/s00247-014-3257
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http://link.springer.com/10.1007/s00247-014-3257-9
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http://dx.doi.org/10.1007/s00247-014-3257-9DOI Listing
July 2015

Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome.

Prenat Diagn 2015 Apr 3;35(4):409-11. Epub 2015 Mar 3.

Service obstétrique, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/pd.4567DOI Listing
April 2015

Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.

J Pediatr 2015 Jan 23;166(1):66-73. Epub 2014 Oct 23.

Medical-Surgical Center, Hepatology, and Transplantation AP-HP, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2014.09.030DOI Listing
January 2015

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

Am J Med Genet A 2015 Jan 25;167A(1):164-8. Epub 2014 Nov 25.

Department of Genetics, Lyon University Hospital, Lyons, France.

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http://dx.doi.org/10.1002/ajmg.a.36759DOI Listing
January 2015

Prenatal diagnosis of osteopathia striata with cranial sclerosis.

Prenat Diagn 2015 Mar 26;35(3):302-4. Epub 2014 Nov 26.

Laboratoire de Pathologie, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, Lyon, France.

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http://doi.wiley.com/10.1002/pd.4513
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http://dx.doi.org/10.1002/pd.4513DOI Listing
March 2015

Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosis.

J Pediatr Gastroenterol Nutr 2014 Nov;59(5):629-35

*Pediatric Hepatology and Inborn Metabolic Diseases Unit, University Children's Hospital, Toulouse †Department of Pediatric Gastroenterology, Hepatology and Nutrition ‡Pathology Department, Hopital Femme Mère Enfant, Bron §Pathology Department, Institut Gustave Roussy ||Sorbonne Universités, UPMC Univ Paris 06, Paris ¶Internal Medicine Department #Special Care Baby Unit, Poissy-Saint Germain en Laye Hospital, Poissy **Clinical Genetics, Hopital Femme Mère Enfant, Bron ‡‡Pediatric Hepatology and Gastroenterology Unit §§Special Care Baby Unit, University Children's Hospital, Bordeaux ||Fetal Medicine, Saint Nicolas Hospital, Blaye ¶¶Neonatal Intensive Care Unit, Armand Trousseau Hospital, Paris ##Neonatal Intensive Care Unit, General Hospital, Saint-Brieuc ***Pediatric Surgery, Saint-Brieuc †††Clinical Genetics, University Hospital, Rennes, France ‡‡‡Metabolic Medicine Department, Great Ormond Street Hospital, London, UK §§§Department of Pediatric Surgery, Hepatology, and Transplantation, Necker Enfants Malades Hospital, Paris ||||||Pediatrics, University Hospital, Limoges, France.

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http://dx.doi.org/10.1097/MPG.0000000000000514DOI Listing
November 2014

ZEB2, a new candidate gene for asplenia.

Orphanet J Rare Dis 2014 Jan 8;9. Epub 2014 Jan 8.

Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique et Centre de référence des anomalies du développement, Bron F-69677, France.

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http://dx.doi.org/10.1186/1750-1172-9-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891986PMC
January 2014

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Eur J Med Genet 2013 Nov 17;56(11):585-90. Epub 2013 Sep 17.

Centre de référence des anomalies du développement, Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.002DOI Listing
November 2013

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Am J Med Genet A 2013 Oct 5;161A(10):2564-9. Epub 2013 Aug 5.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36079DOI Listing
October 2013

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Am J Med Genet A 2012 Dec 19;158A(12):3174-81. Epub 2012 Nov 19.

Centre de référence des anomalies du développement, Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.35588DOI Listing
December 2012

French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations.

Pediatr Dev Pathol 2012 Nov-Dec;15(6):450-70. Epub 2012 Aug 17.

Department of Pathology, Hôpital Femme-Mère-Enfant, HCL and University Claude Bernard, Lyon, France.

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http://dx.doi.org/10.2350/12-02-1155-OA.1DOI Listing
March 2013

[Orodental development and anomalies].

Rev Prat 2002 Dec;52(20):2287-92

Faculté d'odontologie, Université Lyon 1, 69372 Lyon.

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December 2002